| Property |
Value |
| Gene Symbol |
LRRTM4 |
| Full Name |
Leucine-Rich Repeat Transmembrane Neuronal 4 |
| Chr Location |
12p13.31 |
| NCBI Gene ID |
66037 |
| OMIM ID |
611243 |
| Ensembl ID |
ENSG00000145860 |
| UniProt ID |
Q9HCK5 |
| Encoded Protein |
LRRTM4 |
| Associated Diseases |
Autism spectrum disorder, intellectual disability, attention deficit hyperactivity disorder |
LRRTM4 (Leucine-Rich Repeat Transmembrane Neuronal 4) is a synaptic adhesion molecule with unique structural features. Located on chromosome 12p13.31, LRRTM4 is primarily involved in excitatory synapse development and has specific functions in sensory processing circuits. It has been associated with autism spectrum disorder, intellectual disability, and attention deficit hyperactivity disorder.
LRRTM4 encodes leucine-rich repeat transmembrane neuronal 4, a synaptic adhesion molecule with unique structural features. LRRTM4 is primarily involved in excitatory synapse development and has specific functions in sensory processing circuits.
Key normal physiological functions include:
- Excitatory synapse formation - Induces postsynaptic differentiation
- Sensory circuit development - Critical for auditory and visual processing
- Synaptic plasticity - Regulates hippocampal plasticity
- Dendritic spine development - Controls spine density and morphology
- AMPAR recruitment - Regulates AMPA receptor function
- Axon guidance - Modulates neuronal connectivity
The protein structure:
- Signal peptide - N-terminal secretion signal
- Leucine-rich repeats - 10 LRR motifs with unique insert
- Transmembrane domain - Single pass membrane
- C-terminal tail - Intracellular interactions
- LRRTM4 variants associated with ASD
- Synaptic dysfunction in ASD
- Implicated in social behavior
- Rare pathogenic variants cause ID
- Synapse development disrupted
- Genetic associations with attention deficits
- Potential role in synaptic function
LRRTM4 is expressed in brain:
- Highest expression: Cortex, hippocampus, sensory cortices
- Moderate expression: Cerebellum, thalamus
- Cellular localization: Postsynaptic densities
- Cell types: Excitatory neurons
The Allen Brain Atlas shows high LRRTM4 expression in:
- Sensory cortices (auditory, visual)
- Hippocampal CA1 pyramidal cells
- Cortical layers 2-6
- Linhoff et al., LRRTM family function (2009)
- Soler-Llavona et al., LRRTM4 and synaptogenesis (2010)